Canonical Allele Identifier: CA392330417

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428351C>A , CM000677.2:g.48428351C>A	GRCh38
NC_000015.9:g.48720548C>A , CM000677.1:g.48720548C>A	GRCh37
NC_000015.8:g.46507840C>A	NCBI36
NG_008805.2:g.222438G>T , LRG_778:g.222438G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6992G>T MANE Select	NP_000129.3:p.Cys2331Phe
ENST00000316623.10:c.6992G>T MANE Select	ENSP00000325527.5:p.Cys2331Phe
NM_000138.4:c.6992G>T , LRG_778t1:c.6992G>T	NP_000129.3:p.Cys2331Phe
ENST00000316623.9:c.6992G>T	ENSP00000325527.5:p.Cys2331Phe
ENST00000559133.5:c.2299G>T
ENST00000559133.6:c.6992G>T	ENSP00000453958.2:p.Cys2331Phe
ENST00000560720.1:n.279G>T
ENST00000674301.1:c.2096G>T	ENSP00000501333.1:n.2096G>T
ENST00000674301.2:c.*443G>T	ENSP00000501333.2:n.*443G>T
ENST00000682170.1:n.601G>T
ENST00000682767.1:n.227G>T